Canonical Allele Identifier: CA783243743
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1466826760
gnomAD v3: 19-11106539-TCAACA-T
gnomAD v4: 19-11106539-TCAACA-T
MyVariant Identifiers: chr19:g.11217216_11217220del (hg19) chr19:g.11106540_11106544del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106542_11106546del , CM000681.2:g.11106542_11106546del GRCh38
NC_000019.9:g.11217218_11217222del , CM000681.1:g.11217218_11217222del GRCh37
NC_000019.8:g.11078218_11078222del NCBI36
NG_009060.1:g.22162_22166del , LRG_274:g.22162_22166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.953-23_953-19del ENSP00000252444.6:n.953-23_953-19del
ENST00000559340.2:c.695-23_695-19del ENSP00000453696.2:n.695-23_695-19del
ENST00000560467.2:c.695-23_695-19del ENSP00000453513.2:n.695-23_695-19del
ENST00000558518.6:c.695-23_695-19del MANE Select ENSP00000454071.1:n.695-23_695-19del
ENST00000252444.9:c.949-23_949-19del
ENST00000455727.6:c.314-850_314-846del ENSP00000397829.2:n.314-850_314-846del
ENST00000535915.5:c.572-23_572-19del ENSP00000440520.1:n.572-23_572-19del
ENST00000545707.5:c.314-23_314-19del ENSP00000437639.1:n.314-23_314-19del
ENST00000557933.5:c.695-23_695-19del ENSP00000453557.1:n.695-23_695-19del
ENST00000558013.5:c.695-23_695-19del ENSP00000453346.1:n.695-23_695-19del
ENST00000558518.5:c.695-23_695-19del ENSP00000454071.1:n.695-23_695-19del
ENST00000558528.1:n.187_191del
ENST00000560467.1:c.295-23_295-19del
NM_000527.4:c.695-23_695-19del , LRG_274t1:c.695-23_695-19del NP_000518.1:n.695-23_695-19del
NM_001195798.1:c.695-23_695-19del NP_001182727.1:n.695-23_695-19del
NM_001195799.1:c.572-23_572-19del NP_001182728.1:n.572-23_572-19del
NM_001195800.1:c.314-850_314-846del NP_001182729.1:n.314-850_314-846del
NM_001195803.1:c.314-23_314-19del NP_001182732.1:n.314-23_314-19del
XM_011528010.1:c.695-23_695-19del XP_011526312.1:n.695-23_695-19del
XM_011528011.1:c.314-23_314-19del XP_011526313.1:n.314-23_314-19del
XR_244074.2:n.845-23_845-19del
XM_011528010.2:c.695-23_695-19del XP_011526312.1:n.695-23_695-19del
XR_001753685.2:n.812-23_812-19del
XR_001753686.2:n.812-23_812-19del
NM_000527.5:c.695-23_695-19del MANE Select NP_000518.1:n.695-23_695-19del
NM_001195798.2:c.695-23_695-19del NP_001182727.1:n.695-23_695-19del
NM_001195799.2:c.572-23_572-19del NP_001182728.1:n.572-23_572-19del
NM_001195800.2:c.314-850_314-846del NP_001182729.1:n.314-850_314-846del
NM_001195803.2:c.314-23_314-19del NP_001182732.1:n.314-23_314-19del
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